A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641252



Internal ID7028026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74973501..74976704hg38UCSC Ensembl
Innerchr17:74974001..74976204hg38UCSC Ensembl
Outerchr17:74972501..74977704hg38UCSC Ensembl
chr17:72969596..72972799hg19UCSC Ensembl
Innerchr17:72970096..72972299hg19UCSC Ensembl
Outerchr17:72968596..72973799hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg383204
hg193204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15740490, essv15740489, essv15740496, essv15740494, essv15740491, essv15740493, essv15740497, essv15740492, essv15740495
SamplesNA21099, NA20752, HG03884, HG02684, HG02685, NA20847, NA20849, HG03922, NA21104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641252
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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